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What is Neurofibromatosis?

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What is Neurofibromatosis?



What is Neurofibromatosis?
Neurofibromatosis is an incurable genetic disorder of the nervous system. It mainly affects the development of nerve cell tissues. Tumors known as neurofibromas develop on the nerves, and these can lead to other problems.


A complex, often devastating set of genetic disorders with possible complications throughout the body that may also hold the genetic mystery to a host of other human ailments. Affecting approximately 1 in 2,500 people or 2 million people worldwide, it appears equally in all races, ethnic groups and both sexes.


According to the Mayo Clinic, The tumors are generally non-cancerous or benign, but sometimes can turn into cancerous or malignant tumors. Symptoms are often mild. However, complications of neurofibromatosis can include hearing loss, learning impairment, heart and blood vessel (cardiovascular) problems, loss of vision, and severe pain.


How do you know you have Neurofibromatosis?

A common complication for a person with Neurofibromatosis is the growth of tumors on the nerves anywhere in and on the body. There are currently several separate, distinct disorders classified as neurofibromatosis. This includes neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. Others are also being identified.


What are the symptoms?

According to the national genome research institute, symptoms for neurofibromatosis include:

Type 1 Symptoms:

  • Presence of light brown sports on the skin
  • Appearance of two or more neurofibromas (pea-sized bumps/tumors) that can grow either on the nerve tissue, under the skin or on many nerve tissues
  • Manifestation of freckles under the armpits or in the groin areas
  • Appearance of tiny tan clumps of pigment in the iris of the eyes (Lisch nodules)
  • Tumors along the optic nerve of the eye (optic glioma)
  • Severe curvature of the spine (scoliosis)
  • Enlargement or malformation of other bones in the skeletal system.

Symptoms for NF1 vary for each individual. Those that are skin-related are often present at birth, during infancy and by a child’s tenth birthday. From ages 10 to 15, neurofibromas may become apparent.

Symptoms for neurofibromatosis type 2 include:

  • Tumors along the eighth cranial nerve (schwannomas).
  • Meningiomas and other brain tumors.
  • Ringing noises inside the ear (tinnitus), hearing loss and/or deafness.
  • Cataracts at a young age.
  • Spinal tumors.
  • Balance problems.
  • Wasting of muscles (atrophy).

Individuals with NF2 develop tumors that grow on the eighth cranial nerves and on the vestibular nerves. These tumors often cause pressure on the acoustic nerves, which result in hearing loss. Hearing loss may begin as early as an individual’s teenage years.


What treatments are available for Neurofibromatosis?

Neurofibromatosis treatment maximize healthy growth and development. They also help to manage complications as soon as they arise.


Surgery is a treatment for large tumors. When the tumors press on a nerve, surgery can help ease symptoms. Some people may benefit from other therapies, such as stereotactic radiosurgery or medications to control pain.


Interested in learning more? It’s Neurofibromatosis awareness month. Visit the website to learn more.


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